Incidental Mutation 'R6066:Creld2'
ID 484061
Institutional Source Beutler Lab
Gene Symbol Creld2
Ensembl Gene ENSMUSG00000023272
Gene Name cysteine-rich with EGF-like domains 2
Synonyms 5730592L21Rik
MMRRC Submission 044230-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6066 (G1)
Quality Score 184.009
Status Not validated
Chromosome 15
Chromosomal Location 88703849-88710884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88707969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 236 (T236K)
Ref Sequence ENSEMBL: ENSMUSP00000024042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024042] [ENSMUST00000043087] [ENSMUST00000159328] [ENSMUST00000162183]
AlphaFold Q9CYA0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024042
AA Change: T236K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272
AA Change: T236K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF3456 28 86 1.3e-7 PFAM
low complexity region 90 100 N/A INTRINSIC
EGF 137 176 3.76e-1 SMART
FU 191 238 1.2e-7 SMART
EGF_like 228 273 1.76e-3 SMART
FU 251 298 5.08e-6 SMART
EGF_CA 288 329 3.17e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043087
SMART Domains Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 267 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159328
SMART Domains Protein: ENSMUSP00000125534
Gene: ENSMUSG00000035845

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 169 6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162183
SMART Domains Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 406 3.3e-44 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adgrb1 T C 15: 74,412,308 (GRCm39) F429S probably damaging Het
Ahi1 A T 10: 20,835,825 (GRCm39) M53L possibly damaging Het
Ahr A T 12: 35,554,920 (GRCm39) F400I probably damaging Het
Ak7 G T 12: 105,699,750 (GRCm39) G223V possibly damaging Het
Alpk3 A G 7: 80,726,698 (GRCm39) I128V possibly damaging Het
Ampd3 A T 7: 110,392,974 (GRCm39) E247D probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Arhgef10l A G 4: 140,304,391 (GRCm39) F243L probably damaging Het
Cdh23 A T 10: 60,269,537 (GRCm39) V661E probably damaging Het
Cox8c A G 12: 102,866,534 (GRCm39) T53A probably benign Het
Cul3 A T 1: 80,261,476 (GRCm39) C250S probably benign Het
Dhx37 A C 5: 125,501,730 (GRCm39) F510V probably benign Het
Fblim1 T C 4: 141,305,220 (GRCm39) D350G probably damaging Het
Lipm A G 19: 34,090,374 (GRCm39) Y185C probably damaging Het
Mfsd4b4 A G 10: 39,768,049 (GRCm39) F348S probably benign Het
Misp A G 10: 79,662,146 (GRCm39) R188G possibly damaging Het
Nbeal1 T G 1: 60,287,564 (GRCm39) I936S probably benign Het
Ngly1 G A 14: 16,294,634 (GRCm38) M521I probably benign Het
Nlrp9a A T 7: 26,257,510 (GRCm39) Y376F probably benign Het
Oas3 T C 5: 120,910,989 (GRCm39) K197R probably damaging Het
Pars2 T C 4: 106,511,276 (GRCm39) Y353H probably damaging Het
Pik3r1 T C 13: 101,822,828 (GRCm39) N625D possibly damaging Het
Pkhd1l1 T A 15: 44,391,525 (GRCm39) S1530R probably damaging Het
Rsph6a C T 7: 18,799,740 (GRCm39) P457L probably damaging Het
Secisbp2 T C 13: 51,831,258 (GRCm39) S565P probably benign Het
Slc28a3 T C 13: 58,726,301 (GRCm39) M163V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Szt2 T C 4: 118,229,171 (GRCm39) T2890A unknown Het
Tatdn3 A T 1: 190,778,465 (GRCm39) V242E probably benign Het
Vmn1r22 T G 6: 57,877,864 (GRCm39) M38L probably benign Het
Vmn2r104 A G 17: 20,258,573 (GRCm39) F524L possibly damaging Het
Vmn2r94 A G 17: 18,477,695 (GRCm39) S239P probably damaging Het
Xpo7 T C 14: 70,919,778 (GRCm39) D679G probably null Het
Zbtb42 C A 12: 112,646,041 (GRCm39) T72K probably damaging Het
Zfp493 G A 13: 67,935,069 (GRCm39) A341T possibly damaging Het
Zfp811 A G 17: 33,017,801 (GRCm39) C80R possibly damaging Het
Other mutations in Creld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0510:Creld2 UTSW 15 88,704,159 (GRCm39) missense probably damaging 1.00
R1137:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1163:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1164:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1206:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1207:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1207:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1457:Creld2 UTSW 15 88,707,956 (GRCm39) missense probably damaging 1.00
R1475:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1915:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R2105:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R4297:Creld2 UTSW 15 88,707,956 (GRCm39) missense probably damaging 1.00
R5843:Creld2 UTSW 15 88,710,632 (GRCm39) missense probably damaging 1.00
R6402:Creld2 UTSW 15 88,707,344 (GRCm39) missense probably damaging 0.99
R6454:Creld2 UTSW 15 88,707,274 (GRCm39) nonsense probably null
R6543:Creld2 UTSW 15 88,709,481 (GRCm39) missense probably benign 0.00
R6808:Creld2 UTSW 15 88,709,413 (GRCm39) missense probably damaging 1.00
R6912:Creld2 UTSW 15 88,704,200 (GRCm39) missense probably damaging 1.00
R7342:Creld2 UTSW 15 88,710,610 (GRCm39) missense probably benign 0.03
R8058:Creld2 UTSW 15 88,710,632 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGCTGGTCTAAAGCCTTGG -3'
(R):5'- TAAGTGACGCATGGAGATGTGC -3'

Sequencing Primer
(F):5'- CTAAAGCCTTGGGGGATGG -3'
(R):5'- GCATCATATCCACCACTGATGTCG -3'
Posted On 2017-07-14